Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.K270R
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AQP2

NM_000486.6:p.K270R

Associated Papers

AQP2 trafficking in health and diseases: an updated overview.

Centrone M et al.

The International Journal of Biochemistry & Cell Biology, 2022

Liver X receptor β increases aquaporin 2 protein level via a posttranscriptional mechanism in renal collecting ducts.

Su W et al.

American Journal of Physiology. Renal Physiology, 2017

Phosphorylation and ubiquitylation are opposing processes that regulate endocytosis of the water channel aquaporin-2.

Moeller HB et al.

Journal of Cell Science, 2014

Cell biology of vasopressin-regulated aquaporin-2 trafficking.

Moeller HB et al.

Pflugers Archiv : European Journal of Physiology, 2012

Regulation of AQP2 localization by S256 and S261 phosphorylation and ubiquitination.

Tamma G et al.

American Journal of Physiology. Cell Physiology, 2011

Counteracting vasopressin-mediated water reabsorption by ATP, dopamine, and phorbol esters: mechanisms of action.

Boone M et al.

American Journal of Physiology. Renal Physiology, 2011

Ubiquitination of aquaporin-2 in the kidney.

Lee YJ et al.

Electrolyte & Blood Pressure : E & Bp, 2009

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation.

van Balkom BW et al.

Journal of the American Society of Nephrology : Jasn, 2009

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Kamsteeg EJ et al.

Pflugers Archiv : European Journal of Physiology, 2008

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel.

Kamsteeg EJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."